OBO ID: DOID:0060849
Term Name: osteoporosis-pseudoglioma syndrome Search Ontology:
Synonyms:
  • ocular form of osteogenesis imperfecta
  • OPPG
Definition: A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. (3)
References:
Ontology: Human Disease   (DOID:0060849)
OTHER osteoporosis-pseudoglioma syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LRP5 Osteoporosis-pseudoglioma syndrome 259770
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None